Survival and long term clinical outcome of surgical resection of intraspinal nerve sheath tumors in 131 patients was evaluated through retrospective chart review and interviews and examination of surviving patients. Gross total resection was performed in 112 patients (85.5%) and subtotal resection in 19 patients (14.5%). Five-year progression-free survival was 89%. The following risk factors for recurrence were identified: neurofibroma, malignant peripheral nerve sheath tumor, subtotal resection, neurofibromatoses/schwannomatosis, and advancing age at diagnosis. More than 95% of patients had neurological function compatible with an independent life at follow-up. The rate of tumor recurrence in nonneurofibromatosis patients undergoing total resection of a single schwannoma was 3% (3/93), in comparison with a recurrence rate of 32% (12/38) in the remaining patients.

American Journal of Medical GeneticsRecent schwannomatosis research presented included vectors that cause regression of schwannomas and a reduction in schwannoma-induced pain in mice, studies of underlying mechanisms of pain, analysis of SMARCE1 and SMARCB1 mutations and their role in tumor development, and progress on the International Schwannomatosis Database.

Schwannomatosis research presented included genetic studies that indicate that constitutional mutations in the SMARCB1 tumor suppressor gene occur in 40–50% of familial cases and in 8–10% of sporadic cases of schwannomatosis, insights from research on HIV and pediatric rhabdoid tumors that shed light on potential molecular pathways that are dysregulated in schwannomatosis-related schwannomas, mouse models of schwannomatosis that promise to further expand our understanding of tumorigenesis and the tumor microenvironment, and clinical reports that describe the occurrence of intracranial meningiomas in schwannomatosis patients and in families with germline SMARCB1 mutations.